Canonical Allele Identifier: CA280395

Gene: MEFV

Linked Data

• ClinVar Variation Id: 97442
• ClinVar RCV Id: RCV000083693 ; RCV001553681 ; RCV003126426 ; RCV003126425
• dbSNP Id: rs104895173
• MyVariant Identifiers: chr16:g.3297198C>A (hg19) ; chr16:g.3247198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3247198C>A , CM000678.2:g.3247198C>A	GRCh38
NC_000016.9:g.3297198C>A , CM000678.1:g.3297198C>A	GRCh37
NC_000016.8:g.3237199C>A	NCBI36
NG_007871.1:g.14430G>T , LRG_190:g.14430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000219596.6:c.1405G>T MANE Select	ENSP00000219596.1:p.Val469Leu
ENST00000219596.5:c.1405G>T	ENSP00000219596.1:p.Val469Leu
ENST00000339854.8:c.865G>T	ENSP00000339639.4:p.Val289Leu
ENST00000536379.5:c.772G>T	ENSP00000445079.1:p.Val258Leu
ENST00000536980.5:c.772G>T	ENSP00000444178.1:p.Val258Leu
ENST00000537682.5:c.1405G>T	ENSP00000438611.1:p.Val469Leu
ENST00000538326.5:c.*30G>T	ENSP00000437486.1:n.*30G>T
ENST00000539145.5:c.326G>T	ENSP00000444471.1:n.326G>T
ENST00000539154.1:n.770G>T
ENST00000541159.5:c.772G>T	ENSP00000438711.1:p.Val258Leu
ENST00000542898.5:c.1498G>T	ENSP00000444615.1:p.Val500Leu
ENST00000570511.5:c.959G>T	ENSP00000458312.1:n.959G>T
ENST00000572244.5:c.278-651G>T	ENSP00000461186.1:n.278-651G>T
ENST00000574583.5:c.326G>T	ENSP00000460269.1:n.326G>T
ENST00000576315.5:c.326G>T	ENSP00000460551.1:n.326G>T
ENST00000621655.1:c.772G>T	ENSP00000481436.1:p.Val258Leu
NM_000243.2:c.1405G>T , LRG_190t1:c.1405G>T	NP_000234.1:p.Val469Leu
NM_001198536.1:c.772G>T	NP_001185465.1:p.Val258Leu
XM_017023236.2:c.1402G>T	XP_016878725.1:p.Val468Leu
XR_001751903.1:n.1594G>T
NM_000243.3:c.1405G>T MANE Select	NP_000234.1:p.Val469Leu
NM_001198536.2:c.772G>T	NP_001185465.2:p.Val258Leu